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Cluster 21

24 diseases · 44 shared-gene connections
24 Diseases
197 Unique genes
0.113 Avg. similarity score
Immunodeficiency Most-connected disease (14 links)
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Disease Searched: Immunodeficiency 81 Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

Member diseases (most connected first ‐ the cluster's core)

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵ Member diseases ⇵ Linked diseases
LIG4 9 / 24 Acute lymphoblastic leukemia, Combined immunodeficiency, Dna ligase iv deficiency, Dubowitz syndrome and 5 more
CD247 4 / 24 Immunodeficiency, Immunodeficiency 25, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
CD3E 4 / 24 Immunodeficiency, Immunodeficiency 18, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
CD3G 4 / 24 Combined immunodeficiency, Immunodeficiency, Immunodeficiency 17, cd3 gamma deficient, Severe combined immunodeficiency
CORO1A 4 / 24 Combined immunodeficiency, Immunodeficiency, Omenn syndrome, Severe combined immunodeficiency
DCLRE1C 4 / 24 Omenn syndrome, Severe combined immunodeficiency, Severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation, T-b+ severe combined immunodeficiency
IL7R 4 / 24 Immunodeficiency, Omenn syndrome, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
PGM3 4 / 24 Combined immunodeficiency, Immunodeficiency, Immunodeficiency 23, Severe combined immunodeficiency
PNP 4 / 24 Combined immunodeficiency, Purine nucleoside phosphorylase deficiency, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
PTPRC 4 / 24 Immunodeficiency, Omenn syndrome, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
RAG1 4 / 24 Combined immunodeficiency, Omenn syndrome, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
RAG2 4 / 24 Immunodeficiency, Omenn syndrome, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
BCL11B 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
CARD11 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
CARMIL2 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
CD3D 3 / 24 Immunodeficiency, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
CTPS1 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
FOXN1 3 / 24 Combined immunodeficiency, Severe combined immunodeficiency, T-b+ severe combined immunodeficiency
IKBKB 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
IL21R 3 / 24 Combined immunodeficiency, Immunodeficiency, Omenn syndrome
IL2RG 3 / 24 Combined immunodeficiency, Omenn syndrome, Severe combined immunodeficiency
JAK3 3 / 24 Omenn syndrome, Severe combined immunodeficiency, T-B+ severe combined immunodeficiency
LCK 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
MALT1 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
ORAI1 3 / 24 Combined immunodeficiency, Immunodeficiency, T-b+ severe combined immunodeficiency
PRKDC 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
STIM1 3 / 24 Combined immunodeficiency, Immunodeficiency, T-b+ severe combined immunodeficiency
STK4 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
TFRC 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
ZAP70 3 / 24 Combined immunodeficiency, Immunodeficiency, Severe combined immunodeficiency
ADA 2 / 24 Omenn syndrome, Severe combined immunodeficiency
ARPC1B 2 / 24 Combined immunodeficiency, Immunodeficiency
BLM 2 / 24 Acute lymphoblastic leukemia, Immunodeficiency
CD70 2 / 24 Combined immunodeficiency, Severe combined immunodeficiency
CHD7 2 / 24 Immunodeficiency, Omenn syndrome
COPG1 2 / 24 Immunodeficiency, Non-severe combined immunodeficiency
DEF6 2 / 24 Immunodeficiency, Immunodeficiency 87 and autoimmunity
DOCK2 2 / 24 Combined immunodeficiency, Immunodeficiency
DOCK8 2 / 24 Combined immunodeficiency, Severe combined immunodeficiency
DOP1A 2 / 24 Immunodeficiency, Severe combined immunodeficiency
ERBIN 2 / 24 Autosomal dominant combined immunodeficiency, Combined immunodeficiency
FCHO1 2 / 24 Combined immunodeficiency, Immunodeficiency
GINS1 2 / 24 Combined immunodeficiency, Immunodeficiency
ICOSLG 2 / 24 Combined immunodeficiency, Immunodeficiency
IFTAP 2 / 24 Omenn syndrome, Severe combined immunodeficiency
IL2RA 2 / 24 Immunodeficiency, Omenn syndrome
IL6ST 2 / 24 Combined immunodeficiency, Immunodeficiency
IRF4 2 / 24 Combined immunodeficiency, Immunodeficiency
IRF9 2 / 24 Immunodeficiency, Immunodeficiency 65, susceptibility to viral infections
LAT 2 / 24 Immunodeficiency, Severe combined immunodeficiency
LCP2 2 / 24 Immunodeficiency, Immunodeficiency 81
LRBA 2 / 24 Combined immunodeficiency, Severe combined immunodeficiency
MCM10 2 / 24 Immunodeficiency, Immunodeficiency 80 with or without congenital cardiomyopathy
MSN 2 / 24 Combined immunodeficiency, Immunodeficiency
MST1 2 / 24 Combined immunodeficiency, Immunodeficiency
NHEJ1 2 / 24 Immunodeficiency, Severe combined immunodeficiency
NUDCD3 2 / 24 Omenn syndrome, Severe combined immunodeficiency
PIK3CD 2 / 24 Combined immunodeficiency, Immunodeficiency
PIK3R1 2 / 24 Combined immunodeficiency, Immunodeficiency
POLD1 2 / 24 Combined immunodeficiency, Immunodeficiency
POLD3 2 / 24 Immunodeficiency, Severe combined immunodeficiency
POLR3F 2 / 24 Immunodeficiency, Immunodeficiency 101, varicella zoster virus-specific
PSMB10 2 / 24 Immunodeficiency, Omenn syndrome
RAC2 2 / 24 Immunodeficiency, T-b+ severe combined immunodeficiency
REL 2 / 24 Combined immunodeficiency, Immunodeficiency
RELB 2 / 24 Combined immunodeficiency, Immunodeficiency
RFX5 2 / 24 Combined immunodeficiency, Severe combined immunodeficiency
RHOH 2 / 24 Combined immunodeficiency, Immunodeficiency
SLC19A1 2 / 24 Combined immunodeficiency, Immunodeficiency
STAT5B 2 / 24 Combined immunodeficiency, T-b+ severe combined immunodeficiency
TBX1 2 / 24 Combined immunodeficiency, T-b+ severe combined immunodeficiency
TNFRSF4 2 / 24 Combined immunodeficiency, Immunodeficiency
TTC7A 2 / 24 Combined immunodeficiency, Severe combined immunodeficiency
XRCC4 2 / 24 Lig4 syndrome, Short stature, microcephaly, and endocrine dysfunction
ZNFX1 2 / 24 Immunodeficiency, Immunodeficiency 91 and hyperinflammation
What do these columns mean?
Connections in cluster
How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners
How many of those links are statistically significant (FDR q < 0.05).
Curated genes
Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes)
How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y)
x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count
Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment
Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value
Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster)
Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster)
Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
Primary immunodeficiency KEGG 20 / 38 32.1× 1.94e-26 4.00e-23 ✓ sig.
Th17 cell differentiation KEGG 28 / 109 15.7× 3.85e-26 7.46e-23 ✓ sig.
Measles KEGG 30 / 139 13.2× 1.61e-25 2.86e-22 ✓ sig.
T cell receptor signaling pathway KEGG 28 / 122 14.0× 1.17e-24 1.85e-21 ✓ sig.
Th1 and Th2 cell differentiation KEGG 24 / 93 15.7× 1.42e-22 1.70e-19 ✓ sig.
Herpes simplex virus 1 infection KEGG 29 / 182 9.7× 9.25e-21 7.89e-18 ✓ sig.
Epstein-Barr virus infection KEGG 30 / 204 9.0× 2.05e-20 1.61e-17 ✓ sig.
PD-L1 expression and PD-1 checkpoint pathway in cancer KEGG 20 / 90 13.5× 1.41e-17 7.11e-15 ✓ sig.
Toll-like receptor signaling pathway KEGG 21 / 109 11.7× 4.82e-17 2.17e-14 ✓ sig.
Influenza A KEGG 25 / 173 8.8× 5.83e-17 2.58e-14 ✓ sig.
Osteoclast differentiation KEGG 23 / 142 9.9× 8.27e-17 3.51e-14 ✓ sig.
JAK-STAT signaling pathway KEGG 23 / 168 8.3× 3.72e-15 1.16e-12 ✓ sig.
NF-kappa B signaling pathway KEGG 19 / 105 11.0× 5.41e-15 1.62e-12 ✓ sig.
NOD-like receptor signaling pathway KEGG 23 / 187 7.5× 3.95e-14 1.01e-11 ✓ sig.
Chagas disease KEGG 18 / 103 10.7× 5.49e-14 1.37e-11 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
immune system process GO:0002376 57 / 943 5.7× 5.03e-28 2.34e-24 ✓ sig.
T cell activation GO:0042110 22 / 76 27.5× 4.27e-26 1.56e-22 ✓ sig.
T cell receptor signaling pathway GO:0050852 24 / 121 18.8× 4.76e-24 1.28e-20 ✓ sig.
T cell proliferation GO:0042098 15 / 51 27.9× 2.94e-18 3.63e-15 ✓ sig.
defense response to virus GO:0051607 25 / 247 9.6× 1.28e-17 1.48e-14 ✓ sig.
B cell differentiation GO:0030183 16 / 80 19.0× 1.88e-16 1.73e-13 ✓ sig.
positive regulation of T cell proliferation GO:0042102 15 / 67 21.2× 2.76e-16 2.46e-13 ✓ sig.
T cell differentiation GO:0030217 14 / 54 24.6× 2.95e-16 2.62e-13 ✓ sig.
response to virus GO:0009615 18 / 128 13.3× 1.63e-15 1.30e-12 ✓ sig.
cell surface receptor signaling pathway GO:0007166 27 / 373 6.9× 2.89e-15 2.16e-12 ✓ sig.
positive regulation of canonical NF-kappaB signal transduction GO:0043123 22 / 232 9.0× 5.01e-15 3.64e-12 ✓ sig.
innate immune response GO:0045087 33 / 605 5.2× 7.12e-15 4.98e-12 ✓ sig.
immune response GO:0006955 31 / 543 5.4× 1.50e-14 9.98e-12 ✓ sig.
cytokine-mediated signaling pathway GO:0019221 18 / 145 11.8× 1.53e-14 1.01e-11 ✓ sig.
positive regulation of tumor necrosis factor production GO:0032760 16 / 113 13.4× 5.70e-14 3.45e-11 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Combined immunodeficiency Immunodeficiency 0.195 34 1.62e-54 4.55e-53 ✓ sig.
Combined immunodeficiency Severe combined immunodeficiency 0.264 24 8.23e-46 2.09e-44 ✓ sig.
Immunodeficiency Severe combined immunodeficiency 0.135 24 4.44e-35 9.63e-34 ✓ sig.
Severe combined immunodeficiency T-B+ severe combined immunodeficiency 0.200 12 5.29e-27 9.66e-26 ✓ sig.
Omenn syndrome Severe combined immunodeficiency 0.200 12 5.29e-27 9.66e-26 ✓ sig.
Omenn syndrome T-B+ severe combined immunodeficiency 0.250 7 8.88e-18 1.20e-16 ✓ sig.
Combined immunodeficiency T-B+ severe combined immunodeficiency 0.114 8 7.39e-16 9.26e-15 ✓ sig.
Immunodeficiency T-B+ severe combined immunodeficiency 0.058 9 1.11e-14 1.32e-13 ✓ sig.
Immunodeficiency Omenn syndrome 0.051 8 1.23e-12 1.32e-11 ✓ sig.
Combined immunodeficiency Omenn syndrome 0.068 5 4.39e-9 3.62e-8 ✓ sig.
Omenn syndrome Severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation 0.111 2 1.13e-6 6.85e-6 ✓ sig.
Dna ligase iv deficiency Severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Lig4 syndrome Short stature, microcephaly, and endocrine dysfunction 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Dna ligase iv deficiency Lig4 syndrome 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Dna ligase iv deficiency Dubowitz syndrome 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Acute lymphoblastic leukemia Dna ligase iv deficiency 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Dubowitz syndrome Severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation 0.250 1 2.58e-4 5.38e-4 ✓ sig.
Dubowitz syndrome Lig4 syndrome 0.250 1 2.58e-4 5.38e-4 ✓ sig.
Lig4 syndrome Severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation 0.250 1 2.58e-4 5.38e-4 ✓ sig.
Acute lymphoblastic leukemia Dubowitz syndrome 0.200 1 3.87e-4 7.33e-4 ✓ sig.
Acute lymphoblastic leukemia Severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation 0.200 1 3.87e-4 7.33e-4 ✓ sig.
Acute lymphoblastic leukemia Lig4 syndrome 0.200 1 3.87e-4 7.33e-4 ✓ sig.
Immunodeficiency 25 T-B+ severe combined immunodeficiency 0.056 1 1.10e-3 1.65e-3 ✓ sig.
Purine nucleoside phosphorylase deficiency T-B+ severe combined immunodeficiency 0.056 1 1.10e-3 1.65e-3 ✓ sig.
Immunodeficiency 18 T-B+ severe combined immunodeficiency 0.056 1 1.10e-3 1.65e-3 ✓ sig.
Immunodeficiency 23 Severe combined immunodeficiency 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Immunodeficiency 25 Severe combined immunodeficiency 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Purine nucleoside phosphorylase deficiency Severe combined immunodeficiency 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Immunodeficiency 18 Severe combined immunodeficiency 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Immunodeficiency 17, cd3 gamma deficient Severe combined immunodeficiency 0.018 1 3.49e-3 4.34e-3 ✓ sig.
Combined immunodeficiency Immunodeficiency 23 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Autosomal dominant combined immunodeficiency Combined immunodeficiency 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Combined immunodeficiency Purine nucleoside phosphorylase deficiency 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Combined immunodeficiency Immunodeficiency 17, cd3 gamma deficient 0.016 1 3.87e-3 4.77e-3 ✓ sig.
Immunodeficiency Immunodeficiency 91 and hyperinflammation 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 101, varicella zoster virus-specific 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Non-severe combined immunodeficiency 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 17, cd3 gamma deficient 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 87 and autoimmunity 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 81 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 80 with or without congenital cardiomyopathy 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 65, susceptibility to viral infections 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 23 0.007 1 9.49e-3 1.06e-2 ✓ sig.
Immunodeficiency Immunodeficiency 18 0.007 1 9.49e-3 1.06e-2 ✓ sig.